A female with XO/XY mosaicism and partial trisomy 9p.
نویسندگان
چکیده
منابع مشابه
Trisomy D1 (13-15) associated with XO-XY mosaicism.
Double aneuploidy in which an extra sex chromosome coexists with autosomal trisomy was first reported in a child with trisomy 21 and XXY sex chromosomes (Ford, Jones, Miller, Mittwoch, Penrose, Ridler, and Shapiro, 1959); since then XXX trisomy 21 (Day, Wright, Koons, and Quigley, 1963; Yunis, Hook, and Alter, 1964), XYY trisomy 21 (Verresen and van den Berghe, 1965), XXX trisomy 18 (Uchida and...
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Testicular feminization syndrome (TFS) represents a well-defined form of male pseudohermaphroditism. The patients are of female legal sex. The habitus is completely and often attractively feminine, with well-developed breasts. There is absence of axillary and pubic hair. The external genitalia are female but with a blind vagina. At laparotomy the uterus and Fallopian tubes are found to be absen...
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Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...
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متن کاملTetrasomy 9p: confirmation by enzyme analysis.
A 4-day-old Caucasian male presented with midline defects of the skull and face and extensive skeletal malformations. Chromosome analysis of peripheral blood lymphocytes showed tetrasomy 9p (47,XY, + i(9p) with no evidence of mosaicism. Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which s...
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عنوان ژورنال:
- Journal of medical genetics
دوره 18 6 شماره
صفحات -
تاریخ انتشار 1981